| Project/Area Number |
15K09691
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Kobe University |
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Principal Investigator |
Nozu Kandai 神戸大学, 医学研究科, 准教授 (70362796)
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| Co-Investigator(Kenkyū-buntansha) |
飯島 一誠 神戸大学, 医学研究科, 教授 (00240854)
庄野 朱美 関西医科大学, 医学部, 研究員 (10535066)
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2017: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2015: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Keywords | 塩類喪失性尿細管機能異常症 / バーター症候群 / ギッテルマン症候群 / 遺伝性尿細管機能異常症 / 次世代シークエンサー / Copy number variation / 遺伝性低マグネシウム血症 / 遺伝性塩類喪失性尿細管機能異常症 / ターゲットシークエンス / 遺伝性高カルシウム尿性低カルシウム血症 / 遺伝性クロル下痢症 / 嚢胞性線維症 |
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| Outline of Final Research Achievements |
We established a comprehensive diagnostic system for inherited salt-losing tubulopathies by targeted sequencing. As a result, we have performed genetic diagnosis of approximately 150 cases in three years, and now we have received analysis requests of 5-10 samples monthly. As a result, 1. Established the methodologies for Identification of deep intronic mutations in Gitelman syndrome, and for pathogenicity search of intra-intron mutations, 2. Established the novel methodology for detecting Copy Number Variation and identified HNF1B deletion which was causative variant for pseudo-Bartter syndrome. 3. We clarified the mechanism of the development of pseudo - Barter syndrome in hereditary hypercalcemic hypocalcemia.
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